ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.826C>G (p.Gln276Glu)

gnomAD frequency: 0.00001  dbSNP: rs782815662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903683 SCV002173574 uncertain significance Joubert syndrome 15 2021-05-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEP41-related conditions. This variant is present in population databases (rs782815662, ExAC 0.001%). This sequence change replaces glutamine with glutamic acid at codon 276 of the CEP41 protein (p.Gln276Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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